Rescue by 4-phenylbutyrate of several misfolded creatine transporter-1 variants linked to the creatine transporter deficiency syndrome

Ali El-Kasaby, Ameya Kasture, Florian Koban, Matej Hotka, Hafiz M M Asjad, Helmut Kubista, Michael Freissmuth, Sonja Sucic

Publications: Contribution to journalArticlePeer Reviewed

Original languageEnglish
Article number107572
Number of pages12
JournalNeuropharmacology
Volume161
DOIs
Publication statusPublished - 15 Dec 2019

Austrian Fields of Science 2012

  • 106013 Genetics
  • 106023 Molecular biology
  • 106025 Neurobiology

Keywords

  • 4-Phenylbutyrate
  • BRAIN
  • Creatine deficiency syndrome
  • Creatine transporter-1
  • DOPAMINE TRANSPORTER
  • FUNCTIONAL RESCUE
  • GENE SLC6A8
  • MENTAL-RETARDATION
  • MISSENSE VARIANTS
  • MUTATIONS
  • Pharmacochaperoning
  • Protein misfolding
  • REVEALS
  • SEROTONIN-TRANSPORTER
  • Severe mental retardation
  • TERMINUS

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